Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.200 | X | 67546581 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 67545971 | frameshift variant | -/CCGCTGTGCGTCCCAC | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 67545892 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 67546759 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.200 | X | 67723776 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 16 | 1792338 | stop gained | C/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.160 | 22 | 23767438 | missense variant | C/A;T | snv | 1.8E-05; 4.4E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | X | 67545417 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | X | 67722898 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1992 | 2009 | |||||
|
2 | 0.925 | 0.200 | X | 67717561 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1999 | 2005 | |||||
|
2 | 0.925 | 0.200 | X | 67721873 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1992 | 2016 | |||||
|
3 | 0.882 | 0.200 | X | 67723690 | missense variant | C/T | snv | 1.1E-05 | 9.6E-06 | 0.700 | 1.000 | 1 | 1996 | 1996 | |||
|
2 | 0.925 | 0.200 | X | 67545438 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 67546597 | frameshift variant | CTCG/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 67717600 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 1992 | 2016 | |||||
|
6 | 0.807 | 0.280 | X | 67686064 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 1996 | 2006 | |||||
|
4 | 0.851 | 0.240 | X | 67722872 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 1990 | 2010 | |||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.700 | 1.000 | 3 | 1992 | 2017 | ||||
|
2 | 0.925 | 0.200 | X | 67686046 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 1994 | 2010 | |||||
|
2 | 0.925 | 0.200 | X | 67711569 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.882 | 0.200 | X | 67723746 | missense variant | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 6 | 1994 | 2014 | ||||
|
2 | 0.925 | 0.200 | X | 67721905 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 2 | 1990 | 2015 | ||||
|
5 | 0.827 | 0.240 | X | 67722899 | missense variant | G/A;T | snv | 0.700 | 1.000 | 11 | 1992 | 2017 | |||||
|
5 | 0.827 | 0.240 | X | 67722976 | missense variant | G/A;T | snv | 0.700 | 0 |